Severe Zellweger spectrum disorder due to a novel missense variant in the PEX13 gene: A case report and the literature review.

ABSTRACT:

Background

Peroxisome biogenesis disorders (PBDs) are caused by variants in PEX genes that impair peroxisome function. Zellweger spectrum disorders (ZSDs) are the most severe and common subtype of PBDs, affecting multiple organ systems due to peroxisomal involvement in various metabolic functions. PEX13 gene variants are rare causes of ZSDs, with only 21 cases reported worldwide and none in China.

Methods

We describe an infant with biochemically and molecularly confirmed ZSDs due to variants in the PEX13 gene, identified by whole exome sequencing and validated by Sanger sequencing. The patient's treatment and prognosis were followed up. We also reviewed the literature on previously reported cases with PEX13 variants.

Results

The patient had severe hypotonia, seizures,

SUBMITTER: Su L 

PROVIDER: S-EPMC10767603 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature